30 Questions
What can result in uniparental disomy?
All of the above
Which syndrome has been associated with uniparental disomy?
All of the above
What can cause duplications of genetic material?
Both A and B
Which tend to produce less-serious consequences: deletions or duplications?
Duplications
What can result in an embryo having two copies of the chromosome contributed by one parent?
Loss of one of the extra chromosomes in a trisomic conception
In which disease has uniparental disomy been observed?
All of the above
What is the consequence of mitotic errors causing chromosome loss with subsequent duplication of the homologous chromosome?
Uniparental disomy
What principle does the tendency for duplications to produce less-serious consequences than deletions illustrate?
Loss of genetic material is more serious than an excess of genetic material
What can cause a partial trisomy, or duplication, of genetic material?
Both A and B
What can result in an embryo having two copies of a specific chromosome?
Union of a gamete containing two copies of a specific chromosome with a gamete containing no copies of that chromosome
Which of the following accurately describes ring chromosomes?
Result from deletions at both tips of a chromosome, leading to fusion and potential loss
What is the consequence of inversions in chromosomes?
Can interfere with meiosis, resulting in chromosome abnormalities in offspring
What is the observed frequency of individuals carrying an inversion?
About 1 in 1000 people
Which chromosome abnormality is observed in Turner syndrome?
X chromosome isochromosomes
What is the outcome of most autosomal aberrations?
Induce consistent recognizable patterns of multiple malformations and developmental disabilities
What is the impact of chromosome abnormalities on most individuals?
Associated with developmental delay and intellectual disability
What is the result of faulty division in isochromosomes?
Often lethal
What is the observed phenotype associated with isochromosome 18q?
Edwards syndrome phenotype
What is the impact of duplications compared to deletions of the same region?
Duplications generally have more severe consequences than deletions
What is the observed consequence of ring chromosomes in individuals?
Result in fusion and potential loss
Which of the following is a common feature of autosomal chromosome disorders?
Growth delay
What is the specific consequence of the Philadelphia chromosome in Chronic Myelogenous Leukemia (CML)?
Increased tyrosine kinase activity
Which cancer involves a reciprocal translocation of chromosomes 8 and 14?
Burkitt lymphoma
What is the primary purpose of cytogenetic evaluation of bone marrow cells from leukemia patients?
Routine part of diagnosis
Which condition is associated with increased chromosome breakage and cancer risk due to faulty DNA replication or repair?
Ataxia–telangiectasia
In which type of cancer is the Philadelphia chromosome consistently associated?
Chronic Myelogenous Leukemia
What is the consequence of chromosome rearrangements in somatic cells?
Important cancers in humans
Which of the following is a characteristic feature of chromosome abnormalities?
Developmental delay
What is indicated for newborns with multiple congenital malformations or children with developmental delay?
Chromosome analysis
Which syndrome is associated with defects in DNA replication or repair and increased cancer risk?
Fanconi anemia
Study Notes
Chromosome Abnormalities and Cancer Cytogenetics
- Growth delay is commonly seen in autosomal syndromes.
- Congenital malformations, especially heart defects, occur frequently in autosomal chromosome disorders, with specific patterns.
- Chromosome analysis is indicated for newborns with multiple congenital malformations or children with developmental delay.
- Chromosome abnormalities result in developmental delay, intellectual disability, characteristic facial features, and various congenital malformations.
- Chromosome rearrangements in somatic cells lead to important cancers in humans.
- Chronic myelogenous leukemia (CML) is consistently associated with the Philadelphia chromosome, a translocation between chromosomes 9 and 22.
- The Philadelphia chromosome results in increased tyrosine kinase activity, leading to malignancy in hematopoietic cells.
- Burkitt lymphoma involves a reciprocal translocation of chromosomes 8 and 14, activating the MYC proto-oncogene and causing malignancies.
- Chromosome rearrangements are identified in more than 40 different types of cancer, leading to more accurate prognosis and better therapy.
- Cytogenetic evaluation of bone marrow cells from leukemia patients is a routine part of diagnosis.
- Chromosome instability syndromes, such as ataxia–telangiectasia and Fanconi anemia, are associated with increased chromosome breakage and cancer risk due to faulty DNA replication or repair.
- Bloom syndrome, Fanconi anemia, and other chromosome instability syndromes are associated with increased cancer risk and defects in DNA replication or repair.
Test your knowledge of chromosome abnormalities and cancer cytogenetics with this quiz. Explore the link between chromosome rearrangements and various cancers, the role of cytogenetic evaluation in leukemia diagnosis, and the association of chromosome instability syndromes with increased cancer risk.
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